Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1

Eur J Pediatr. 1990:149 Suppl 1:S17-24. doi: 10.1007/BF02126294.

Abstract

In the course of the collaborative study of children treated for PKU, urine samples from a total of 165 patients were analysed at six different times: in the newborn period before onset of therapy, after beginning of dietary management, during and immediately after a protein loading test at 6 months of age. In 95.9% of newborns with elevated Phe levels in plasma, metabolites of this amino acid as well as of Tyr could be detected. Of all metabolites phenylpyruvate always showed the highest concentration, followed by phenyllactate and o-hydroxy-phenylacetate. During the protein loading test an increase of the same metabolites occurred. At the age of 6 months the percentage of p-hydroxylated compounds related to the sum of all metabolites was lower than in the newborn period. Comparing the results of urine analyses at 6 months of age after the protein loading tests with the classification of HPA into the reaction types I-III, it can be clearly stated that patients with the milder forms II and III have already lower levels of Phe metabolites in urine before onset of therapy compared to the reaction type I. In retrospect 52% of the newborns could therefore be classified as reaction type I even before beginning of dietary management. The analysis of urinary Phe metabolites before the onset of therapy therefore provides sufficient information about the reaction type.

MeSH terms

  • Creatinine / urine
  • Dietary Proteins / administration & dosage*
  • Humans
  • Infant, Newborn
  • Phenylacetates / urine
  • Phenylketonurias / diet therapy
  • Phenylketonurias / urine*
  • Phenylpyruvic Acids / urine

Substances

  • Dietary Proteins
  • Phenylacetates
  • Phenylpyruvic Acids
  • 4-hydroxyphenylpyruvic acid
  • Creatinine
  • phenylpyruvic acid